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Research on the treatment for xeroderma pigmentosum focusing on the oxidarive DNA damage

Research Project

Project/Area Number 24591639
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Dermatology
Research InstitutionOsaka Medical College

Principal Investigator

MORIWAKI Shinichi  大阪医科大学, 医学部, 教授 (40303565)

Project Period (FY) 2012-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2014: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2013: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2012: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Keywords色素性乾皮症 / コケイン症候群 / 酸化ストレス / DNA修復 / 抗酸化 / DNA修復 / 紫外線 / 活性酸素 / DNA損傷 / 神経変性 / 皮膚癌
Outline of Final Research Achievements

In the present study, we focused on oxidative DNA damage and its repair in the pathogenesis of neurodegeneration in XP and CS patients. Both XP, CS and XP or CS knockdown cells were hypersensitive to killing by hydrogen peroxide and the level of DNA repair ability to oxidative DNA damage estimated by plasmid host cell reactivation in XP and CS cells was decreased compared to that in normal cells. The hypersensitivity to hydrogen peroxide in XP and CS cells slightly ameliorated after the treatment of some antioxidants. In CS mice, the demyelinating change was observed in the cerebral cortex immunohistochemically, as in MRI image of progressive CS cases. These in vitro and in vivo experimental systems would be a useful tool to explore a novel remedy for the neurologic manifestations.

Report

(4 results)
  • 2014 Annual Research Report   Final Research Report ( PDF )
  • 2013 Research-status Report
  • 2012 Research-status Report
  • Research Products

    (31 results)

All 2015 2014 2013 2012

All Journal Article (9 results) (of which Peer Reviewed: 9 results,  Acknowledgement Compliant: 1 results) Presentation (14 results) (of which Invited: 7 results) Book (8 results)

  • [Journal Article] Generalized milia in an infant with full trisomy 132014

    • Author(s)
      Sugimoto A, Kurokawa T, Kishi K, Yasuda E, Tamai H, Moriwaki S
    • Journal Title

      J Dermatol

      Volume: 41 Issue: 8 Pages: 763-764

    • DOI

      10.1111/1346-8138.12550

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Trichothiodystrophy Group A: A first Japanese patient with a novel homozygoius nonsense mutation2014

    • Author(s)
      Moriwaki S, Saruwakari H, Nakanishi N, Kanzaki T, Kanekura T, Minoshima S
    • Journal Title

      J Dermatol

      Volume: 41 Issue: 8 Pages: 705-708

    • DOI

      10.1111/1346-8138.12549

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Immunohistochemical analysis of O6-methylguanine-DNA methyltransferase in human skin tumor2014

    • Author(s)
      Kokunai Y, Tsuji M, Yuko Ito Y, Kurokawa T , Otsuki K, Moriwaki S
    • Journal Title

      Med Mol Morphol

      Volume: 47 Issue: 1 Pages: 8-13

    • DOI

      10.1007/s00795-013-0030-3

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Hereditary disorders with deficient repair of UV-induced DNA damage2013

    • Author(s)
      Moriwaki S
    • Journal Title

      JpnClin Med

      Volume: 4 Pages: 29-35

    • DOI

      10.4137/jcm.s10730

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Ocular Manifestations of Xeroderma Pigmentosum: Long-Term Follow-up Highlights the Role of DNA Repair in Protection from Sun Damage.2013

    • Author(s)
      Brooks BP, Thompson AH, Bishop RJ, Clayton JA, Chan CC, Tsilou ET, Zein WM, Tamura D, Khan SG, Ueda T, Boyle J, Oh KS, Imoto K, Inui H, Moriwaki SI, Emmert S, Iliff NT, Bradford P, Digiovanna JJ, Kraemer KH.
    • Journal Title

      Ophthalmology

      Volume: 120 Pages: 1324-1336

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Ancient origin of a Japanese xeroderma pigmentosum founder mutation2013

    • Author(s)
      Imoto K, Nadem C, Moriwaki S, Nishigori C, Oh KS, Sikandar G. Khan SG, Goldstein AM, K Kraemer KH
    • Journal Title

      J Derm Sci

      Volume: 69 Pages: 175-176

    • Related Report
      2013 Research-status Report 2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Prenatal diagnosis of xeroderma pigmentosum group A in Japan2012

    • Author(s)
      Moriwaki S, et al
    • Journal Title

      J Dermatol

      Volume: (In press) Issue: 6 Pages: 516-9

    • DOI

      10.1111/j.1346-8138.2011.01425.x

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Xeroderma pigmentosum complementation group G patient with a novel homozygous mutation and no neurological abnormalities2012

    • Author(s)
      Moriwaki S, et al
    • Journal Title

      Exp Dermatol

      Volume: (In press) Issue: 4 Pages: 304-7

    • DOI

      10.1111/j.1600-0625.2012.01446.x

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Decreased repair of singlet oxygen-induced DNA damage in xeroderma pigmentosum group A cells determined by plasmid host cell reactivation2012

    • Author(s)
      Moriwaki S, et al
    • Journal Title

      J Derm Sci

      Volume: (In press) Issue: 3 Pages: 516-9

    • DOI

      10.1016/j.jdermsci.2012.02.001

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Presentation] A child case of cutaneous tyoe of xeroderma pigmentosum group G with a novel mutation2014

    • Author(s)
      Moriwaki S
    • Organizer
      The 3rd Eastern Asia Dermatology Conference
    • Place of Presentation
      Jeju, Korea
    • Year and Date
      2014-09-24
    • Related Report
      2014 Annual Research Report
  • [Presentation] Novel XPA gene mutation resulting in trace level of XPA expression in an elderly XPA patient without neurological abnormalities2014

    • Author(s)
      Moriwaki S
    • Organizer
      The 44th ESDR
    • Place of Presentation
      Copenhagen, Denmark
    • Year and Date
      2014-09-12
    • Related Report
      2014 Annual Research Report
  • [Presentation] 皮膚科領域の遺伝カウンセリング2014

    • Author(s)
      森脇真一
    • Organizer
      第38回日本遺伝カウンセリング学会
    • Place of Presentation
      大阪
    • Year and Date
      2014-06-28
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] UVBと皮膚2014

    • Author(s)
      森脇真一
    • Organizer
      第113回日本皮膚科学会総会
    • Place of Presentation
      京都
    • Year and Date
      2014-06-01
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] Recent experience in the diagnosis of XP and CS in Japan2014

    • Author(s)
      Moriwaki S
    • Organizer
      International symposium on xeroderma pigmentosum and related diseases : Disorders of DNA damage response ; Bench to Bedside -
    • Place of Presentation
      Kobe, Japan
    • Related Report
      2013 Research-status Report
    • Invited
  • [Presentation] Post-irradiation DNA Damage Repair Function in Cells Derived from Patients with Xeroderma Pigmentosum and Cockayne syndrome.2014

    • Author(s)
      Osawa S, Nakamura A, Maemura K, Otsuki Y, Moriwaki S
    • Organizer
      International symposium on xeroderma pigmentosum and related diseases : Disorders of DNA damage response ; Bench to Bedside -
    • Place of Presentation
      Kobe, Japan
    • Related Report
      2013 Research-status Report
  • [Presentation] DNA repair disprders xeroderma pigmentosum abd trichothiodystrophy : benchi to bedside and back2014

    • Author(s)
      Kraemer KH, DiGiovanana JJ, Khan SG, Tamura D, Bradford P, Totonchy M, Goldstein A, Masaki T, Kuschal C, Ueda T, Inui H, Imoto K, Takeuchi S, Moriwaki S
    • Organizer
      International symposium on xeroderma pigmentosum and related diseases : Disorders of DNA damage response ; Bench to Bedside -
    • Place of Presentation
      Kobe, Japan
    • Related Report
      2013 Research-status Report
    • Invited
  • [Presentation] Adult onset Cockayne syndrome appears in two cases of UV sensitive syndrome with C229T CSB mutation2013

    • Author(s)
      Moriwaki S, Makinodan E, Nakazawa Y, Ogi T
    • Organizer
      International Investigative Dermatology
    • Place of Presentation
      Edinburgh, Scotland
    • Related Report
      2013 Research-status Report
  • [Presentation] Adult onset Cockayne syndrome appears in two cases of UV sensitive syndrome with C229T CSB mutation2013

    • Author(s)
      Moriwaki S, Makinodan E, Nakazawa Y, Ogi T
    • Organizer
      International Investigative Dermatology 2013
    • Place of Presentation
      エジンバラ国際会議場(イギリス)
    • Related Report
      2012 Research-status Report
  • [Presentation] Immunohistochemical analysis of O6-methylguanine-DNA methyltransferase in human melanoma in comparision with skin squamous cell carcinoma2012

    • Author(s)
      Kokunai Y, Tsuji M, Ito Y, Kurokawa T, Otsuki Y, Moriwaki S
    • Organizer
      The 37th ammual meeting of the Japanese society of investigative dermatology
    • Place of Presentation
      ロアジールホテル那覇(沖縄県)
    • Related Report
      2012 Research-status Report
  • [Presentation] 色素性乾皮症~確定診断へのプロセス2012

    • Author(s)
      森脇真一
    • Organizer
      第111回日本皮膚科学会総会
    • Place of Presentation
      国立京都国際会館(京都府)
    • Related Report
      2012 Research-status Report
    • Invited
  • [Presentation] 色素性乾皮症~最近の知見2012

    • Author(s)
      森脇真一
    • Organizer
      第111回日本皮膚科学会総会
    • Place of Presentation
      国立京都国際会館(京都府)
    • Related Report
      2012 Research-status Report
    • Invited
  • [Presentation] 光環境とライフスタイル2012

    • Author(s)
      森脇真一
    • Organizer
      第111回日本皮膚科学会総会
    • Place of Presentation
      国立京都国際会館(京都府)
    • Related Report
      2012 Research-status Report
    • Invited
  • [Presentation] 色素性乾皮症G群~本邦第4例目の報告例(XPG/CS complex?)2012

    • Author(s)
      森脇真一
    • Organizer
      第34回日本光医学・光生物学会 平成24年7月28日(神戸)
    • Place of Presentation
      神戸国際会議場(兵庫県)
    • Related Report
      2012 Research-status Report
  • [Book] 光と生命の事典2015

    • Author(s)
      森脇真一
    • Total Pages
      432
    • Publisher
      朝倉書店
    • Related Report
      2014 Annual Research Report
  • [Book] 苦手な外来皮膚疾患100の解決法2014

    • Author(s)
      森脇真一
    • Total Pages
      247
    • Publisher
      メディカルレビュー社
    • Related Report
      2014 Annual Research Report
  • [Book] 皮膚疾患 最新の治療2015-20162014

    • Author(s)
      森脇真一
    • Total Pages
      296
    • Publisher
      南江堂
    • Related Report
      2014 Annual Research Report
  • [Book] 臨床力を磨く アトピー性皮膚炎 Q&A2014

    • Author(s)
      森脇真一
    • Total Pages
      153
    • Publisher
      診断と治療社
    • Related Report
      2014 Annual Research Report
  • [Book] 今日の治療指針2014

    • Author(s)
      森脇真一
    • Total Pages
      1973
    • Publisher
      医学書院
    • Related Report
      2014 Annual Research Report
  • [Book] 苦手な外来皮膚疾患100の解決法~そのとき達人はどのように苦手皮膚疾患を克服したか?~2014

    • Author(s)
      森脇真一
    • Total Pages
      247
    • Publisher
      メディカルレビュー社
    • Related Report
      2013 Research-status Report
  • [Book] 皮膚科臨床アセット202013

    • Author(s)
      森脇真一
    • Total Pages
      352
    • Publisher
      中山書店
    • Related Report
      2013 Research-status Report
  • [Book] 誤診されている皮膚疾患2013

    • Author(s)
      森脇真一
    • Total Pages
      431
    • Publisher
      ディカルレビュー社
    • Related Report
      2013 Research-status Report

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Published: 2013-05-31   Modified: 2019-07-29  

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